Hypothesis

10 I 15 37 2 PC (15 years) 1 retinal hb (17 years) 1 EC (17 years) T c.337C > T (p.Arg113X)

PatientID: I

KindredID: 10

Case: Sex Unknown, 37Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0001737, HP:0009711, HP:0009715 (pancreatic cysts, retinal capillary hemangioma, Papillary cystadenoma of the epididymis)

CaseHPOFreeText: The patient was diagnosed with VHL at age 15 and presented with two pheochromocytomas. At age 17, the patient presented with a retinal capillary hemangioma and an epididymal cystadenoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 19863552, 25834951, 27966541, 27539272

SupplementalData: N/A

Variant: p.R113* (c.337C>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 220414 https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType:stop_gained

CivicName: R113* (c.337C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Danish MutationType:stop_gained DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:Papillarycystadenomaoftheepididymis cDNAposition:337 ProteinPosition:113 ClinVarID:220414 ClinVarID:Yes CivicName:R113*(c.337C>T) AgeOfPresentation:pancreaticcysts:15 AgeOfPresentation:retinalcapillaryhemangioma:17 AgeOfPresentation:Papillarycystadenomaoftheepididymis:17 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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